A treatable new cause of chorea: beta-ketothiolase deficiency.
Identifieur interne : 003C27 ( Ncbi/Curation ); précédent : 003C26; suivant : 003C28A treatable new cause of chorea: beta-ketothiolase deficiency.
Auteurs : Daniela Buha [Canada] ; Geneviève Bernard ; Toshiyuki Fukao ; Jean-Claude Décarie ; Sylvain Chouinard ; Grant A. MitchellSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , deficiency : Acetyl-CoA C-Acyltransferase.
- complications : Amino Acid Metabolism, Inborn Errors.
- etiology : Chorea.
- pathology : Brain, Chorea.
- therapy : Chorea.
- Adolescent, Humans, Magnetic Resonance Imaging, Male.
DOI: 10.1002/mds.25538
PubMed: 23818432
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000855
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :000855
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000B36
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :003C27
Links to Exploration step
pubmed:23818432Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A treatable new cause of chorea: beta-ketothiolase deficiency.</title><author><name sortKey="Buha, Daniela" sort="Buha, Daniela" uniqKey="Buha D" first="Daniela" last="Buha">Daniela Buha</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Montreal Children's Hospital, Montréal, Quebéc, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Montreal Children's Hospital, Montréal, Quebéc</wicri:regionArea><wicri:noRegion>Quebéc</wicri:noRegion></affiliation></author><author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name></author><author><name sortKey="Fukao, Toshiyuki" sort="Fukao, Toshiyuki" uniqKey="Fukao T" first="Toshiyuki" last="Fukao">Toshiyuki Fukao</name></author><author><name sortKey="Decarie, Jean Claude" sort="Decarie, Jean Claude" uniqKey="Decarie J" first="Jean-Claude" last="Décarie">Jean-Claude Décarie</name></author><author><name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name></author><author><name sortKey="Mitchell, Grant A" sort="Mitchell, Grant A" uniqKey="Mitchell G" first="Grant A" last="Mitchell">Grant A. Mitchell</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="doi">10.1002/mds.25538</idno><idno type="RBID">pubmed:23818432</idno><idno type="pmid">23818432</idno><idno type="wicri:Area/PubMed/Corpus">000855</idno><idno type="wicri:Area/PubMed/Curation">000855</idno><idno type="wicri:Area/PubMed/Checkpoint">000B36</idno><idno type="wicri:Area/Ncbi/Merge">003C27</idno><idno type="wicri:Area/Ncbi/Curation">003C27</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A treatable new cause of chorea: beta-ketothiolase deficiency.</title><author><name sortKey="Buha, Daniela" sort="Buha, Daniela" uniqKey="Buha D" first="Daniela" last="Buha">Daniela Buha</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Montreal Children's Hospital, Montréal, Quebéc, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Montreal Children's Hospital, Montréal, Quebéc</wicri:regionArea><wicri:noRegion>Quebéc</wicri:noRegion></affiliation></author><author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Geneviève" last="Bernard">Geneviève Bernard</name></author><author><name sortKey="Fukao, Toshiyuki" sort="Fukao, Toshiyuki" uniqKey="Fukao T" first="Toshiyuki" last="Fukao">Toshiyuki Fukao</name></author><author><name sortKey="Decarie, Jean Claude" sort="Decarie, Jean Claude" uniqKey="Decarie J" first="Jean-Claude" last="Décarie">Jean-Claude Décarie</name></author><author><name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name></author><author><name sortKey="Mitchell, Grant A" sort="Mitchell, Grant A" uniqKey="Mitchell G" first="Grant A" last="Mitchell">Grant A. Mitchell</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acetyl-CoA C-Acyltransferase (deficiency)</term><term>Adolescent</term><term>Amino Acid Metabolism, Inborn Errors (complications)</term><term>Brain (pathology)</term><term>Chorea (etiology)</term><term>Chorea (pathology)</term><term>Chorea (therapy)</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Acetyl-CoA C-Acyltransferase</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Amino Acid Metabolism, Inborn Errors</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term></keywords></textClass></profileDesc></teiHeader></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003C27 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 003C27 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Ncbi
|étape= Curation
|type= RBID
|clé= pubmed:23818432
|texte= A treatable new cause of chorea: beta-ketothiolase deficiency.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:23818432" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |